Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

NCT ID: NCT01952275

Last Updated: 2016-09-27

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 600 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2014-01-31
• Study Completion Date: 2020-01-31

Brief Summary

This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a discovery cohort formed based on the certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole exome sequencing which identifies all protein-coding genetic variants. Subsequently, statistical burden tests are going to identify enrichment of rare coding genetic variants in patients affected by Neutrophil-Mediated Inflammatory Skin Diseases.

The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical intervention.

Detailed Description

Timeframe:

• Collection of DNA for discovery cohort until 05/2016
• Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID
• Report and data presentation early 2015 for PG, 2017 for other NMID

Conditions

Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue; Pyoderma Gangrenosum; Erosive Pustular Dermatosis of the Scalp; Sweet's Syndrome; Behcet's Disease; Bowel-associated Dermatosis-arthritis Syndrome; Pustular Psoriasis; Acute Generalized Exanthematous Pustulosis; Keratoderma Blenorrhagicum; Sneddon-Wilkinson Disease; IgA Pemphigus; Amicrobial Pustulosis of the Folds; Infantile Acropustulosis; Transient Neonatal Pustulosis; Neutrophilic Eccrine Hidradenitis; Rheumatoid Neutrophilic Dermatitis; Neutrophilic Urticaria; Still's Disease; Erythema Marginatum; Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes; Dermatitis Herpetiformis; Linear IgA Bullous Dermatosis; Bullous Systemic Lupus Erythematosus; Inflammatory Epidermolysis Bullosa Aquisita; Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis); Small Vessel Vasculitis Including Urticarial Vasculitis; Erythema Elevatum Diutinum; Medium Vessel Vasculitis

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: CROSS_SECTIONAL

Interventions

Collection of biological samples

Intervention Type: PROCEDURE

Eligibility Criteria

Inclusion Criteria

• History of NMID or active disease.
• Informed consent.

Exclusion Criteria

• No consent to either part of the study.

• Maximum Eligible Age: 120 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of Zurich

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Alexander Navarini, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital Zurich, Dept. of Dermatology

Locations

University Hospital Zurich, Dept. of Dermatology

Zurich, Canton of Zurich, Switzerland

Site Status: RECRUITING

Countries

Switzerland

Central Contacts

Alexander Navarini, MD

Role: CONTACT

alexander.navarini@usz.ch

Other Identifiers

USZ-DER-AAN-019

Identifier Type: -

Identifier Source: org_study_id